Ignite Creation Date:
2025-12-24 @ 5:44 PM
Ignite Modification Date:
2025-12-29 @ 3:07 AM
Study NCT ID:
NCT04727268
Status:
UNKNOWN
Last Update Posted:
2021-10-04
First Post:
2021-01-22
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Genotype-phenotype Correlation in Junctional Epidermolysis Bullosa
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24', 'submissionTracking': {'submissionInfos': [{'resetDate': '2023-10-23', 'releaseDate': '2022-12-23'}], 'estimatedResultsFirstSubmitDate': '2022-12-23'}}, 'conditionBrowseModule': {'meshes': [{'id': 'D016109', 'term': 'Epidermolysis Bullosa, Junctional'}, {'id': 'C537032', 'term': 'Laryngo onycho cutaneous syndrome'}], 'ancestors': [{'id': 'D004820', 'term': 'Epidermolysis Bullosa'}, {'id': 'D012868', 'term': 'Skin Abnormalities'}, {'id': 'D000013', 'term': 'Congenital Abnormalities'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D012873', 'term': 'Skin Diseases, Genetic'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D012871', 'term': 'Skin Diseases'}, {'id': 'D017437', 'term': 'Skin and Connective Tissue Diseases'}, {'id': 'D012872', 'term': 'Skin Diseases, Vesiculobullous'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'OTHER'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 20}, 'targetDuration': '1 Day', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'ENROLLING_BY_INVITATION', 'startDateStruct': {'date': '2021-09-27', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2021-09', 'completionDateStruct': {'date': '2021-12-30', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2021-09-27', 'studyFirstSubmitDate': '2021-01-22', 'studyFirstSubmitQcDate': '2021-01-22', 'lastUpdatePostDateStruct': {'date': '2021-10-04', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2021-01-27', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2021-12-30', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Genotype and phenotype data collection', 'timeFrame': '6 months', 'description': "The primary objective is to systematically collect genetic and clinical data of junctional epidermolysis bullosa (JEB) patients and to explore whether there are any relationships between participants' genetic defects and the severity of disease."}], 'secondaryOutcomes': [{'measure': 'Bioinformatic analysis', 'timeFrame': '10 months', 'description': 'Development of a pipeline for bioinformatic analysis of variants'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['Open access database', 'Junctional Epidermolysis Bullosa', 'Genotype phenotype correlation'], 'conditions': ['Junctional Epidermolysis Bullosa', 'Laryngo Onycho Cutaneous Syndrome']}, 'referencesModule': {'references': [{'pmid': '32017015', 'type': 'BACKGROUND', 'citation': 'Has C, Bauer JW, Bodemer C, Bolling MC, Bruckner-Tuderman L, Diem A, Fine JD, Heagerty A, Hovnanian A, Marinkovich MP, Martinez AE, McGrath JA, Moss C, Murrell DF, Palisson F, Schwieger-Briel A, Sprecher E, Tamai K, Uitto J, Woodley DT, Zambruno G, Mellerio JE. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol. 2020 Oct;183(4):614-627. doi: 10.1111/bjd.18921. Epub 2020 Mar 11.'}, {'pmid': '32973163', 'type': 'BACKGROUND', 'citation': 'Bardhan A, Bruckner-Tuderman L, Chapple ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall JF, McGrath JA, Mellerio JE, Polson R, Heagerty AH. Epidermolysis bullosa. Nat Rev Dis Primers. 2020 Sep 24;6(1):78. doi: 10.1038/s41572-020-0210-0.'}]}, 'descriptionModule': {'briefSummary': 'This study will collect genetic and clinical information of junctional epidermolysis bullosa (JEB) patients. Computer analysis will be performed on genetic mutations found in these patients and this will be correlated with their clinical characteristics.', 'detailedDescription': "Junctional epidermolysis bullosa (JEB) is a rare genetic skin disease where genetic defects in skin proteins result in extensive blistering in response to mild mechanical stress. Patients are often affected at birth or from early childhood, and suffer from varying degrees of severity depending on the specific mutations that they have and the proteins that are affected. This ranges from severe widespread blistering and death within the first few years of life, to minimal localised blistering and survival to adulthood. Diagnosis is confirmed by genetic testing, and this is often used to predict the likely clinical course. However, it is not always straightforward to make accurate predictions from genetic information, as our understanding of these proteins and mutations at the molecular level is currently incomplete.\n\nThe main aim of this project is to systematically collect genetic and clinical data of junctional epidermolysis bullosa (JEB) patients and to explore whether there are any relationships between participants' genetic defects and the severity of disease. This will help in establishing links between genetic defects and clinical characteristics, which is essential for accurate prognostication, genetic counselling and prenatal diagnosis.\n\nThis study will also aim to develop pipelines for analysis of how mutations may affect corresponding protein structure and function using computer prediction tools. This will improve our understanding of how these proteins function, and could partly explain the variation in disease severity of patients with this condition. It could also lead to identification of important regions of the protein, which could be investigated further in subsequent studies."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '75 Years', 'minimumAge': '0 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patients diagnosed with JEB, confirmed through genetic testing.', 'healthyVolunteers': False, 'eligibilityCriteria': "Inclusion Criteria:\n\nAdults and children with a diagnosis of JEB or LOC syndrome, which has been confirmed with genetic testing. A mutation is present in one of the following genes: LAMA3, LAMB3, LAMC2 or COL17A1.\n\nCurrent JEB patients, or JEB patients within the last 5 years who have used the EB service at Solihull hospital or Birmingham Women's and Children's Hospital. This includes patients who are living and also those who passed away in the last 5 years (eg from severe JEB).\n\nExclusion Criteria:\n\nAdult patients who are unable to give informed consent. Child patients who do not assent and/ or have no one appropriate who can consent on their behalf.\n\nPersons who might not adequately understand verbal explanations or written information given in English."}, 'identificationModule': {'nctId': 'NCT04727268', 'briefTitle': 'Genotype-phenotype Correlation in Junctional Epidermolysis Bullosa', 'organization': {'class': 'OTHER', 'fullName': 'University Hospital Birmingham NHS Foundation Trust'}, 'officialTitle': 'Genotype-phenotype Correlation in Junctional Epidermolysis Bullosa', 'orgStudyIdInfo': {'id': 'RRK7326'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Group 1', 'description': "Retrospective data regarding genetic information will be collected from participants' medical records.\n\nDeep phenotyping of participants will also be completed.", 'interventionNames': ['Other: No intervention']}], 'interventions': [{'name': 'No intervention', 'type': 'OTHER', 'description': 'No interventions present in this study.', 'armGroupLabels': ['Group 1']}]}, 'contactsLocationsModule': {'locations': [{'zip': 'B91 2JL', 'city': 'Solihull', 'state': 'West Midlands', 'country': 'United Kingdom', 'facility': 'Solihull Hospital', 'geoPoint': {'lat': 52.41426, 'lon': -1.78094}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'YES', 'description': 'Once data collection and analysis has been completed, anonymised data regarding genotype and phenotype will be presented at scientific meetings and publised in journals and / or postgraduates theses.'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital Birmingham NHS Foundation Trust', 'class': 'OTHER'}, 'collaborators': [{'name': 'Dystrophic Epidermolysis Bullosa Research Association (DEBRA)', 'class': 'UNKNOWN'}, {'name': 'University of Birmingham', 'class': 'OTHER'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Dermatology Fellow', 'investigatorFullName': 'Dr David Wen', 'investigatorAffiliation': 'University Hospital Birmingham NHS Foundation Trust'}}}, 'annotationSection': {'annotationModule': {'unpostedAnnotation': {'unpostedEvents': [{'date': '2022-12-23', 'type': 'RELEASE'}, {'date': '2023-10-23', 'type': 'RESET'}], 'unpostedResponsibleParty': 'Dr David Wen, Dermatology Fellow, University Hospital Birmingham NHS Foundation Trust'}}}}